Published in Hum Reprod Update on July 01, 2005
Non-invasive imaging of human embryos before embryonic genome activation predicts development to the blastocyst stage. Nat Biotechnol (2010) 3.22
Low frequency of imprinting defects in ICSI children born small for gestational age. Eur J Hum Genet (2008) 1.05
Reproduction abnormalities and twin pregnancies in parents of sporadic patients with oculo-auriculo-vertebral spectrum/Goldenhar syndrome. Hum Genet (2007) 1.00
Limiting dilution bisulfite (pyro)sequencing reveals parent-specific methylation patterns in single early mouse embryos and bovine oocytes. Epigenetics (2011) 0.99
Gonadotropin stimulation contributes to an increased incidence of epimutations in ICSI-derived mice. Hum Mol Genet (2012) 0.90
Selection of competent blastocysts for transfer by combining time-lapse monitoring and array CGH testing for patients undergoing preimplantation genetic screening: a prospective study with sibling oocytes. BMC Med Genomics (2014) 0.90
Racial disparities in economic and clinical outcomes of pregnancy among Medicaid recipients. Matern Child Health J (2013) 0.87
ART and health: clinical outcomes and insights on molecular mechanisms from rodent studies. Mol Hum Reprod (2012) 0.85
Routine cryopreservation of spermatozoa is safe--evidence from the DNA methylation pattern of nine spermatozoa genes. J Assist Reprod Genet (2012) 0.84
Preimplantation stress and development. Birth Defects Res C Embryo Today (2012) 0.82
Using the Eeva Test™ adjunctively to traditional day 3 morphology is informative for consistent embryo assessment within a panel of embryologists with diverse experience. J Assist Reprod Genet (2014) 0.80
Long-term follow-up of children conceived through assisted reproductive technology. J Zhejiang Univ Sci B (2013) 0.79
Methylenetetrahydrofolate reductase (MTHFR) gene polymorphisms resulting in suboptimal oocyte maturation: a discussion of folate status, neural tube defects, schizophrenia, and vasculopathy. J Exp Clin Assist Reprod (2008) 0.79
The periconceptional environment and cardiovascular disease: does in vitro embryo culture and transfer influence cardiovascular development and health? Nutrients (2015) 0.78
The placenta: phenotypic and epigenetic modifications induced by Assisted Reproductive Technologies throughout pregnancy. Clin Epigenetics (2015) 0.77
Probing the effect of human normal sperm morphology rate on cycle outcomes and assisted reproductive methods selection. PLoS One (2014) 0.77
Linking DNA methylation to the onset of human tubal ectopic pregnancy. Am J Transl Res (2013) 0.76
Are adverse outcomes associated with assisted reproduction related to the technology or couples' subfertility? Nat Clin Pract Urol (2008) 0.75
Screening of Two Neighboring CFTR Mutations in Iranian Infertile Men with Non-Obstructive Azoospermia. Int J Fertil Steril (2016) 0.75
DNA methyltransferase 3A promoter polymorphism is associated with the risk of human spontaneous abortion after assisted reproduction techniques and natural conception. J Assist Reprod Genet (2016) 0.75
A 14-year-old boy with chronic cyanosis, mild anemia, and limited physical resistance to stress. Clin Chem (2012) 2.02
Association of a polymorphism of the ACVRL1 gene with sporadic arteriovenous malformations of the central nervous system. J Neurosurg (2006) 1.83
Analysis of Drosophila segmentation network identifies a JNK pathway factor overexpressed in kidney cancer. Science (2009) 1.83
Outcome of assisted reproduction. Lancet (2007) 1.72
Pregnancy course and outcome after intracytoplasmic sperm injection: a controlled, prospective cohort study. Fertil Steril (2004) 1.30
A plan to reduce emergency room 'boarding' of psychiatric patients. Health Aff (Millwood) (2010) 1.25
Renal phenotype in Lowe Syndrome: a selective proximal tubular dysfunction. Clin J Am Soc Nephrol (2008) 1.24
The exstrophy-epispadias complex. Orphanet J Rare Dis (2009) 1.24
Dent-2 disease: a mild variant of Lowe syndrome. J Pediatr (2009) 1.09
Characterisation of estrogenic 17beta-hydroxysteroid dehydrogenase (17beta-HSD) activity in the human brain. J Steroid Biochem Mol Biol (2003) 1.08
Deep intronic APC mutations explain a substantial proportion of patients with familial or early-onset adenomatous polyposis. Hum Mutat (2012) 1.07
Comparison of cryopreservation outcome with gonadotropin-releasing hormone agonists or antagonists in the collecting cycle. Fertil Steril (2002) 1.06
Familial occurrence of the VATER/VACTERL association. Pediatr Surg Int (2012) 1.05
Low frequency of imprinting defects in ICSI children born small for gestational age. Eur J Hum Genet (2008) 1.05
A novel CLCN5 mutation in a boy with Bartter-like syndrome and partial growth hormone deficiency. Pediatr Nephrol (2010) 1.05
Novel OCRL1 mutations in patients with the phenotype of Dent disease. Am J Kidney Dis (2006) 1.04
Reproduction abnormalities and twin pregnancies in parents of sporadic patients with oculo-auriculo-vertebral spectrum/Goldenhar syndrome. Hum Genet (2007) 1.00
Concordance analyses of twins with bladder exstrophy-epispadias complex suggest genetic etiology. Am J Med Genet A (2007) 1.00
Polyalanine expansion in HOXA13: three new affected families and the molecular consequences in a mouse model. Hum Mol Genet (2004) 0.99
Steroid sulfatase (STS) expression in the human temporal lobe: enzyme activity, mRNA expression and immunohistochemistry study. J Neurochem (2004) 0.96
Novel NCCT gene mutations as a cause of Gitelman's syndrome and a systematic review of mutant and polymorphic NCCT alleles. Kidney Blood Press Res (2002) 0.94
What is the 'ideal' duration of progesterone supplementation before the transfer of cryopreserved-thawed embryos in estrogen/progesterone replacement protocols? Hum Reprod (2005) 0.93
De novo microduplication at 22q11.21 in a patient with VACTERL association. Eur J Med Genet (2010) 0.93
Dent disease in children: diagnostic and therapeutic considerations. Clin Nephrol (2015) 0.93
A novel CLCN7 mutation resulting in a most severe form of autosomal recessive osteopetrosis. Eur J Pediatr (2009) 0.91
Phenotype severity in the bladder exstrophy-epispadias complex: analysis of genetic and nongenetic contributing factors in 441 families from North America and Europe. J Pediatr (2011) 0.89
Genome-wide expression profiling of urinary bladder implicates desmosomal and cytoskeletal dysregulation in the bladder exstrophy-epispadias complex. Int J Mol Med (2011) 0.89
Identification of a novel mutation in the human mineralocorticoid receptor gene in a german family with autosomal-dominant pseudohypoaldosteronism type 1: further evidence for marked interindividual clinical heterogeneity. J Clin Endocrinol Metab (2003) 0.89
Microduplications at 22q11.21 are associated with non-syndromic classic bladder exstrophy. Eur J Med Genet (2010) 0.89
Muscarinic Acetylcholine Receptor M3 Mutation Causes Urinary Bladder Disease and a Prune-Belly-like Syndrome. Am J Hum Genet (2011) 0.88
Distribution of persistent organochlorine contaminants in infertile patients from Tanzania and Germany. J Assist Reprod Genet (2006) 0.88
R561C missense mutation in the SMARCAL1 gene associated with mild Schimke immuno-osseous dysplasia. Pediatr Nephrol (2005) 0.87
An integrated view on the luteal phase: diagnosis and treatment in subfertility. Clin Endocrinol (Oxf) (2012) 0.87
Molecular characterization of HOXA13 polyalanine expansion proteins in hand-foot-genital syndrome. Am J Med Genet A (2007) 0.87
Inheritance of the VATER/VACTERL association. Pediatr Surg Int (2012) 0.86
VATER/VACTERL association: identification of seven new twin pairs, a systematic review of the literature, and a classical twin analysis. Clin Dysmorphol (2012) 0.86
Vitamin A responsive night blindness in Dent's disease. Pediatr Nephrol (2009) 0.86
Ancestral resurrection of the Drosophila S2E enhancer reveals accessible evolutionary paths through compensatory change. Mol Biol Evol (2014) 0.85
CLCN5 mutation (R347X) associated with hypokalaemic metabolic alkalosis in a Turkish child: an unusual presentation of Dent's disease. Nephrol Dial Transplant (2005) 0.85
Is there an association between septate uterus and endometriosis? Hum Reprod (2005) 0.85
Family-based association study of the MTHFR polymorphism C677T in the bladder-exstrophy-epispadias-complex. Am J Med Genet A (2006) 0.84
De novo microduplications at 1q41, 2q37.3, and 8q24.3 in patients with VATER/VACTERL association. Eur J Hum Genet (2013) 0.84
Congenital partial atresia of the Fallopian tube. Reprod Biomed Online (2006) 0.84
Neuromotor development and mental health at 5.5 years of age of singletons born at term after intracytoplasmatic sperm injection ICSI: results of a prospective controlled single-blinded study in Germany. Fertil Steril (2008) 0.84
A novel melanocortin-4 receptor gene mutation in a female patient with severe childhood obesity. Endocrine (2009) 0.84
An incompletely penetrant novel MAFB (p.Ser56Phe) variant in autosomal dominant multicentric carpotarsal osteolysis syndrome. Int J Mol Med (2013) 0.84
Classic bladder exstrophy: Frequent 22q11.21 duplications and definition of a 414 kb phenocritical region. Birth Defects Res A Clin Mol Teratol (2014) 0.83
Characterization of 28 novel patients expands the mutational and phenotypic spectrum of Lowe syndrome. Pediatr Nephrol (2014) 0.83
Characterization of the dehydroepiandrosterone (DHEA) metabolism via oxysterol 7alpha-hydroxylase and 17-ketosteroid reductase activity in the human brain. J Neurochem (2002) 0.83
Variant of the CHEK2 gene as a prognostic marker in glioblastoma multiforme. Neurosurgery (2006) 0.83
Allopregnanolone serum levels and expression of 5 alpha-reductase and 3 alpha-hydroxysteroid dehydrogenase isoforms in hippocampal and temporal cortex of patients with epilepsy. Epilepsy Res (2003) 0.83
Deletion of both ICAM-1 and C3 enhances severity of experimental autoimmune encephalomyelitis compared to C3-deficient mice. Neurosci Lett (2008) 0.83
Medical management of endometriosis: a systematic review. IDrugs (2004) 0.82
Effect of growth hormone replacement therapy in a boy with Dent's disease: a case report. J Med Case Rep (2011) 0.82
p63 (TP73L) a key player in embryonic urogenital development with significant dysregulation in human bladder exstrophy tissue. Int J Mol Med (2010) 0.82
Heterozygous FGF8 mutations in patients presenting cryptorchidism and multiple VATER/VACTERL features without limb anomalies. Birth Defects Res A Clin Mol Teratol (2014) 0.82
Physical health at 5.5 years of age of term-born singletons after intracytoplasmic sperm injection: results of a prospective, controlled, single-blinded study. Fertil Steril (2008) 0.82
Disorders of the renal proximal tubule. Nephron Physiol (2010) 0.82
De novo 13q deletions in two patients with mild anorectal malformations as part of VATER/VACTERL and VATER/VACTERL-like association and analysis of EFNB2 in patients with anorectal malformations. Am J Med Genet A (2013) 0.82
A first report on Hb Q-Iran in association with alpha-thalassemia in a case of spinal ischemia. Clin Lab (2011) 0.81
Isolated bladder exstrophy associated with a de novo 0.9 Mb microduplication on chromosome 19p13.12. Birth Defects Res A Clin Mol Teratol (2013) 0.81
The use of cryopreserved mature and immature testicular spermatozoa for intracytoplasmic sperm injection: risks and limitations. Semin Reprod Med (2002) 0.81
Interactions between neutrophils and non-small cell lung cancer cells: enhancement of tumor proliferation and inflammatory mediator synthesis. Cancer Immunol Immunother (2014) 0.81
Maternal de novo triple mosaicism for two single OCRL nucleotide substitutions (c.1736A>T, c.1736A>G) in a Lowe syndrome family. Hum Genet (2011) 0.81
Resequencing and follow-up of neurexin 1 (NRXN1) in schizophrenia patients. Schizophr Res (2011) 0.81
Candidate gene association study implicates p63 in the etiology of nonsyndromic bladder-exstrophy-epispadias complex. Birth Defects Res A Clin Mol Teratol (2013) 0.81
Exclusion of WTAP and HOXA13 as candidate genes for isolated hypospadias. Scand J Urol Nephrol (2003) 0.80
The process of decision making in reproductive medicine. Semin Reprod Med (2005) 0.80
Bladder exstrophy-epispadias complex: Investigation of suppressor of variegation, enhancer of zeste and Trithorax (SET) as a candidate gene in a large cohort of patients. Scand J Urol Nephrol (2006) 0.80
Use of clomiphene citrate in in vitro fertilization (IVF) and IVF/intracytoplasmic sperm injection cycles. Fertil Steril (2003) 0.79
Influence of processing on quality parameters of strawberries. J Agric Food Chem (2008) 0.79
Possible association of Down syndrome and exstrophy-epispadias complex: report of two new cases and review of the literature. Eur J Pediatr (2008) 0.79
Liddle syndrome in a Serbian family and literature review of underlying mutations. Eur J Pediatr (2011) 0.79
A novel epithelial sodium channel beta-subunit mutation associated with hypertensive Liddle syndrome. Pediatr Nephrol (2005) 0.78
Nine new twin pairs with esophageal atresia: a review of the literature and performance of a twin study of the disorder. Birth Defects Res A Clin Mol Teratol (2012) 0.78
Clinical and laboratory features of Macedonian children with OCRL mutations. Pediatr Nephrol (2011) 0.78
Investigation of FGF10 as a candidate gene in patients with anorectal malformations and exstrophy of the cloaca. Pediatr Surg Int (2008) 0.78
Involvement of the WNT and FGF signaling pathways in non-isolated anorectal malformations: sequencing analysis of WNT3A, WNT5A, WNT11, DACT1, FGF10, FGFR2 and the T gene. Int J Mol Med (2012) 0.78
Evidence for linkage of the bladder exstrophy-epispadias complex on chromosome 4q31.21-22 and 19q13.31-41 from a consanguineous Iranian family. Birth Defects Res A Clin Mol Teratol (2010) 0.78
Evidence for annular pancreas as an associated anomaly in the VATER/VACTERL association and investigation of the gene encoding pancreas specific transcription factor 1A as a candidate gene. Am J Med Genet A (2014) 0.77
Genome-wide analysis for micro-aberrations in familial exstrophy of the bladder using array-based comparative genomic hybridization. BJU Int (2007) 0.77
Are major defects in children conceived in vitro due to innate problems in patients or to induced genetic damage? Reprod Biomed Online (2003) 0.77
Fertilization rate and preimplantation development after intracytoplasmic sperm injection. Reprod Biomed Online (2001) 0.77
Gonadotropin-releasing hormone antagonists: pharmacology and clinical use in women. Treat Endocrinol (2002) 0.77
De novo duplication of 18p11.21-18q12.1 in a female with anorectal malformation. Am J Med Genet A (2011) 0.77
Unilateral follicular aspiration and in-vitro maturation before contralateral oocyte retrieval: a method to prevent ovarian hyperstimulation syndrome. Eur J Obstet Gynecol Reprod Biol (2003) 0.77
No major role for periconceptional folic acid use and its interaction with the MTHFR C677T polymorphism in the etiology of congenital anorectal malformations. Birth Defects Res A Clin Mol Teratol (2014) 0.76
Non-stereo-selective cytosolic human brain tissue 3-ketosteroid reductase is refractory to inhibition by AKR1C inhibitors. Biochim Biophys Acta (2010) 0.76
Bladder exstrophy and Epstein type congenital macrothrombocytopenia: evidence for a common cause? Am J Med Genet A (2006) 0.76
Genome-wide mapping of copy number variations in patients with both anorectal malformations and central nervous system abnormalities. Birth Defects Res A Clin Mol Teratol (2014) 0.76
Murine expression and mutation analyses of the prostate androgen-regulated mucin-like protein 1 (Parm1) gene, a candidate for human epispadias. Gene (2012) 0.76
Dent disease-like phenotype and the chloride channel ClC-4 (CLCN4) gene. Am J Med Genet A (2004) 0.75
Factors influencing response to ovarian stimulation. Reprod Biomed Online (2005) 0.75
Hemoglobin Andrew-Minneapolis: hemolytic erythrocytosis and severe iron overload in toxic liver cirrhosis. Ann Lab Med (2012) 0.75
Dent disease with compound heterozygous mutations leading to severe chronic renal failure in a female patient. Pediatr Nephrol (2003) 0.75
Identification of rare variants in KCTD13 at the schizophrenia risk locus 16p11.2. Psychiatr Genet (2016) 0.75
Case-control studies of novel hemoglobin anomalies as differential diagnosis in sleep apnea syndrome. Sleep Breath (2012) 0.75
MTHFR 677 TT genotype in a mother and her child with Down syndrome, atrioventricular canal and exstrophy of the bladder: implications of a mutual genetic risk factor? Eur J Pediatr (2006) 0.75